{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T22:47:19Z","timestamp":1757544439089},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7034,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1986,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lymphocytes from patients with Wiskott\u2010Aldrich syndrome (WAS) were studied (1) with prometaphase G banding to search for minor chromosome anomalies and (2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to have a stable inversion of a large segment of one chromosome 6 that involved the region encoding the major histocompatibility complex (MHC). The anomaly was not present in the patient's parents, nor in three other unrelated patients with WAS, all of whom demonstrated X\u2010linked inheritance (based on family history). None of the four patients showed an excessive number of breaks or radial exchange figures following exposure to mitomycin C or diepoxybutane. Thus chromosome fragility in WAS was not confirmed by these studies. However, the incidental finding of 6p inversion in a sporadic case of WAS suggests that genetic rearrangement involving the MHC can result in clinical immunodeficiency mimicking WAS.<\/jats:p>","DOI":"10.1002\/ajmg.1320230305","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T20:03:30Z","timestamp":1118520210000},"page":"765-773","source":"Crossref","is-referenced-by-count":3,"title":["Cytogenetic studies in Wiskott\u2010Aldrich syndrome: Identification of a case with a 6p chromosome abnormality"],"prefix":"10.1002","volume":"23","author":[{"given":"M. P.","family":"Johnson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. H.","family":"Filipovich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.13.2.133"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-196903000-00023"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00975.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196710262771703"},{"key":"e_1_2_1_6_1","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1542\/peds.67.1.119","article-title":"Mitomycin C test for diagnostic differentiation of idiopathic aplastic anemia and Fanconi anemia","volume":"67","author":"Cervenka J","year":"1981","journal-title":"Pediatrics"},{"issue":"6","key":"e_1_2_1_7_1","first-page":"90A","article-title":"Wiskott\u2010Aldrich syndrome: Chromosome instability in phytohemagglutinin\u2010stimulated blood lymphocytes","volume":"31","author":"Chaganti RSK","year":"1979","journal-title":"Abstract Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1972.02110120089008"},{"key":"e_1_2_1_9_1","first-page":"794","article-title":"The identification of Fanconi anemia genotypes by clastogenic stress","volume":"34","author":"Cohen MM","year":"1982","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","first-page":"141","volume-title":"B Lymphocytes Today","author":"Filipovich AH","year":"1982"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.3.1147"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(80)90492-4"},{"key":"e_1_2_1_13_1","first-page":"25","article-title":"Further studies of a metabolic stress test in Wiskott\u2010Aldrich syndrome carriers","volume":"2","author":"Gerrard JM","year":"1980","journal-title":"Am J Hematol Oncol"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(82)90018-8"},{"key":"e_1_2_1_15_1","first-page":"107","article-title":"Immune deficiency associated with a deletion in the short arm of the X\u2010chromosome","volume":"45","author":"Nurmi T","year":"1981","journal-title":"Clin Exp Immunol"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)92802-6"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80133-8"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1182\/blood.V56.6.1048.1048","article-title":"Wiskott\u2010Aldrich syndrome: cellular impairments and their implications for carrier detection","volume":"56","author":"Prchal JT","year":"1980","journal-title":"Blood"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007890-197103000-00004"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80013-X"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)90419-1"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)91922-X"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1964.tb07790.x"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0090-1229(79)90075-8"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320230305","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320230305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T15:59:23Z","timestamp":1697817563000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320230305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,3]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,3]]}},"alternative-id":["10.1002\/ajmg.1320230305"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320230305","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,3]]}}}